A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.
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Charcot-Marie-Tooth disease and intracellular trafficNeuropathy- and myopathy-associated mutations in human small heat shock proteins: Characteristics and evolutionary history of the mutation sitesChaperonopathies: Spotlight on Hereditary Motor NeuropathiesIncreased monomerization of mutant HSPB1 leads to protein hyperactivity in Charcot-Marie-Tooth neuropathyIdentification of the key structural motifs involved in HspB8/HspB6-Bag3 interactionCryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyCharcot-Marie-Tooth causing HSPB1 mutations increase Cdk5-mediated phosphorylation of neurofilamentsAxonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel MutationsHeat shock proteins: cellular and molecular mechanisms in the central nervous system.Gamma-synucleinopathy: neurodegeneration associated with overexpression of the mouse protein.The genetics of axonal transport and axonal transport disordersGene expression profiling of two distinct neuronal populations in the rodent spinal cord.Development of Improved HDAC6 Inhibitors as Pharmacological Therapy for Axonal Charcot-Marie-Tooth DiseaseRegulation of vimentin intermediate filaments in endothelial cells by hypoxia.Identification of the Drosophila ortholog of HSPB8: implication of HSPB8 loss of function in protein folding diseases.Abnormal interaction of motor neuropathy-associated mutant HspB8 (Hsp22) forms with the RNA helicase Ddx20 (gemin3).Overexpression of mutant HSP27 causes axonal neuropathy in mice.The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.Mutant HSPB1 overexpression in neurons is sufficient to cause age-related motor neuronopathy in miceTruncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress.RNA processing defects associated with diseases of the motor neuronDistal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutationPathology-dependent effects linked to small heat shock proteins expression: an updateHeat shock protein 27 is a potential indicator for response to YangZheng XiaoJi and chemotherapy agents in cancer cells.Mitochondrial function, morphology, and axonal transport in amyotrophic lateral sclerosis.HspB1 silences translation of PDZ-RhoGEF by enhancing miR-20a and miR-128 expression to promote neurite extensionRecent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.HDAC6 at the Intersection of Neuroprotection and Neurodegeneration.The protective and therapeutic function of small heat shock proteins in neurological diseases.Protein interactomes of three stress inducible small heat shock proteins: HspB1, HspB5 and HspB8.Barcoding heat shock proteins to human diseases: looking beyond the heat shock responseNeurofilament dynamics and involvement in neurological disorders.HSPB1 mutations causing hereditary neuropathy in humans disrupt non-cell autonomous protection of motor neurons.DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.Interaction of small heat shock proteins with light component of neurofilaments (NFL).Proteostasis and Diseases of the Motor Unit.Neurofilaments and Neurofilament Proteins in Health and Disease.Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative diseaseSericin protects against diabetes-induced injuries in sciatic nerve and related nerve cells.Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.
P2860
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P2860
A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
A mutation in the small heat-s ...... of specific cellular cargoes.
@en
A mutation in the small heat-s ...... of specific cellular cargoes.
@nl
type
label
A mutation in the small heat-s ...... of specific cellular cargoes.
@en
A mutation in the small heat-s ...... of specific cellular cargoes.
@nl
prefLabel
A mutation in the small heat-s ...... of specific cellular cargoes.
@en
A mutation in the small heat-s ...... of specific cellular cargoes.
@nl
P2093
P356
P1476
A mutation in the small heat-s ...... of specific cellular cargoes.
@en
P2093
Arran Kalli
Kay E Davies
Kevin Talbot
Paul A James
Sarah French
Steven Ackerley
P304
P356
10.1093/HMG/DDI452
P577
2005-12-20T00:00:00Z